The MGME1 Polyclonal Antibody (PAC041522) is an essential tool for researchers studying the mitochondrial genome maintenance exonuclease 1 (MGME1) protein. This antibody, produced in rabbits, exhibits high specificity and reactivity with human samples, making it a reliable choice for Western blot applications. By binding to the MGME1 protein, this antibody enables precise detection and analysis in a variety of cell types, supporting investigations in mitochondrial biology, DNA repair, and genetic diseases.MGME1 is a key player in maintaining the integrity of the mitochondrial genome, crucial for proper energy production and cellular function.
Dysregulation of MGME1 has been linked to mitochondrial DNA instability and various mitochondrial disorders, highlighting its importance in cellular health. Research on MGME1 is essential for advancing our understanding of mitochondrial function and its implications for human health, with potential applications in the development of targeted therapies for mitochondrial-related diseases.
Western blot. All lanes: MGME1 antibody at 1µg/ml. Lane 1: Jurkat whole cell lysate. Lane 2: 293T whole cell lysate. Secondary. Goat polyclonal to rabbit IgG at 1/10000 dilution. Predicted band size: 39 kDa. Observed band size: 39 kDa.
Immunohistochemistry of paraffin-embedded human kidney tissue using PACO41522 at dilution of 1:100.
Background:
Metal-dependent single-stranded DNA (ssDNA) exonuclease involved in mitochondrial genome maintenance. Has preference for 5'-3' exonuclease activity but is also capable of endoduclease activity on linear substrates. Necessary for maintenance of proper 7S DNA levels. Probably involved in mitochondrial DNA (mtDNA) repair, possibly via the processing of displaced DNA containing Okazaki fragments during RNA-primed DNA synthesis on the lagging strand or via processing of DNA flaps during long-patch base excision repair. Specifically binds 5-hydroxymethylcytosine (5hmC)-containing DNA in stem cells.
MGME1: an endo-/exonuclease involved in mitochondrial genome maintenance. Lacks detectable ribonuclease activity. Degrades DNA mainly in a 3'5' direction with a strong preference for single-stranded DNA. Requires free ends for its activity. Does not degrade circular substrates. Probably involved in mitochondrial DNA (mtDNA) repair, possibly via the processing of displaced DNA containing Okazaki fragments during RNA-primed DNA synthesis on the lagging strand or via processing of DNA flaps during long- patch base excision repair. Overexpression decreases the levels of 7S DNA, suggesting an important role in 7S DNA regulation. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions (PEOAX), characterized by external ophthalmoplegia, emaciation and respiratory failure. Muscle biopsies show mtDNA depletion and multiple mtDNA deletions. A protein of the PD-(D/E)XK superfamily and MGME1 family. Belongs to the MGME1 family.Protein type: Deoxyribonuclease; EC 3.1.-.-; MitochondrialChromosomal Location of Human Ortholog: 20p11.23Cellular Component: mitochondrionMolecular Function: single-stranded DNA specific exodeoxyribonuclease activityBiological Process: mitochondrial DNA repair; mitochondrial DNA replication; mitochondrial genome maintenanceDisease: Mitochondrial Dna Depletion Syndrome 11
UniProt Protein Details:
NCBI Summary:
The protein encoded by this gene is a nuclear-encoded mitochondrial protein necessary for the maintenance of mitochondrial genome synthesis. The encoded protein is a RecB-type exonuclease and primarily cleaves single-stranded DNA. Defects in this gene have been associated with mitochondrial DNA depletion syndrome-11. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]